FBRS

protein-coding

fibrosin

Gene summary

Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008]

Previous symbols:

FBS1

MANE transcript

NM_001105079.3

Inheritance

—

ClinVar variants

P:2U:99B:2

Top phenotype

Short stature

gnomAD constraint

pLI —, LoF o/e 0.03

Max pathogenic AF

—

Genomic locus

chr16:30,658,431-30,670,810

External References & Databases

Ensembl (ENSG00000156860)

Transcript & Mutation Effects

hg38 • Region Span ~12.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FBRS variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 90

Short statureTotal: 3

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001105079.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense		2 clinvar	98 clinvar			100
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	2	99	2	0	103

Highest pathogenic variant AF is 0.000011179888

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001105079.3	RefSeq	NP_001098549.2	18	MANE Select
ENST00000356166.11	Ensembl	ENSP00000348489.5	18	MANE Select
ENST00000287468.5	Ensembl	ENSP00000287468.5	11	Standard
ENST00000543786.5	Ensembl	ENSP00000456204.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of signaling receptor activity
positive regulation of fibroblast proliferation

Molecular Function

growth factor activity

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000356166
Coding exons: 18
Length: 12384
Individuals with no LoFs: 124128
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 124129
p: 0.00000403

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.764	434	481	0.902	0.0000312	5999
Missense (PolyPhen)		84	99.585	0.8435		1081
Synonymous	-1.84	257	222	1.16	0.0000158	2269
Loss of Function	4.90	1	29.9	0.0334	0.00000145	437

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000089	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): S
Indispensability pred.: E
Indispensability score: 0.574

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium